Barth syndrome
Findings
No curated finding names Barth syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
Definition from the Mondo Disease Ontology (MONDO:0010543), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
54 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Cyclically decreased total neutrophil countHPOHP:0040289
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Dilated cardiomyopathyHPOHP:0001644
Show the remaining 42
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Hypochromic microcytic anemiaHPOHP:0004840
- 1 of 1 reported patient
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 1 of 1 reported patient
- MacrotiaHPOHP:0000400
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TAFAZZINHGNC:11577
- Definitive · ClinGen · X-linked · 2021
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
7 names
Resolves to: Barth syndrome
- Also called
- 3-methylglutaconic aciduria type 2Barth syndrome, X-linked recessiveBTHScardioskeletal myopathy with neutropenia and abnormal mitochondriacardioskeletal myopathy-neutropenia syndromeMGA2X-linked cardioskeletal myopathy and neutropenia